Mefv^{tm2.1(MEFV)Chae}
Targeted Allele Detail

Summary

• Symbol: Mefv^{tm2.1(MEFV)Chae}
• Name: Mediterranean fever; targeted mutation 2.1, Jae Jin Chae
• MGI ID: MGI:5007916
• Synonyms: Mefv^B30.2
• Gene: Mefv Location: Chr16:3525082-3535961 bp, - strand Genetic Position: Chr16, 2.18 cM
• Alliance: Mefv^{tm2.1(MEFV)Chae} page

Mutation origin

• Mouse Generated: Earliest citation of chimera generation: J:172117
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neo cassette was inserted downstream of exon 6. The genomic sequence corresponding to exons 7 through 10 was replaced with the corresponding human sequence. Exon 10 contains the human-specific B30.2 domain. Cre-mediated recombination removed the neo cassette. (J:172117)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mefv Mutation: 46 strains or lines available

References

• Original: J:172117 Chae JJ, et al., Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1beta Activation and Severe Autoinflammation in Mice. Immunity. 2011 May 27;34(5):755-68
• All: 2 reference(s)